Works matching IS 10184813 AND DT 2003 AND VI 11 AND IP 2

Results: 16

A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 170, doi. 10.1038/sj.ejhg.5200920

By:

Thiel, Christian T;
Kraus, Cornelia;
Rauch, Anita;
Ekici, Arif B;
Rautenstrauss, Bernd;
Reis, Andre

Publication type:

Article

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 201, doi. 10.1038/sj.ejhg.5200935

By:

Musante, Luciana;
Kehl, Hans G;
Majewski, Frank;
Meinecke, Peter;
Schweiger, Susann;
Gillessen-Kaesbach, Gabriele;
Wieczorek, Dagmar;
Hinkel, Georg K;
Tinschert, Sigrid;
Hoeltzenbein, Maria;
Ropers, Hans-Hilger;
Kalscheuer, Vera M

Publication type:

Article

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 109, doi. 10.1038/sj.ejhg.5200930

By:

Gebhardt, G Stefan;
Devriendt, Koenraad;
Thoelen, Reinhilde;
Swillen, Ann;
Pijkels, Elly;
Gewillig, Marc;
Fryns, Jean-Pierre;
Vermeesch, Joris R

Publication type:

Article

Clustering of Crohn's disease within affected sibships.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 179

By:

Hugot, Jean-Pierre;
Cezard, Jean-Pierre;
Colombel, Jean-Frederic;
Almer, Sven;
Tysk, Curt;
Montague, Sean;
Gassull, Miquel;
Christensen, Steen;
Finkel, Yigael;
Gower-Rousseau, Corinne;
Modigliani, R;
Zouali, Habib;
Lesage, Suzanne;
Chamaillard, Mathias;
Macry, Jeanne;
Thomas, Gilles;
Victor, Jean-Marc;
Belaiche, J

Publication type:

Article

Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 196, doi. 10.1038/sj.ejhg.5200933

By:

Houten, Sander M;
van Woerden, Christiaan S;
Wijburg, Frits A;
Wanders, Ronald J A;
Waterham, Hans R

Publication type:

Article

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 185, doi. 10.1038/sj.ejhg.5200934

By:

Masmoudi, Saber;
Tlili, Abdelaziz;
Majava, Marja;
Ghorbel, Abdel Monem;
Chardenoux, Sebastien;
Lemainque, Arnaud;
Zina, Zeineb Ben;
Moala, Jihene;
MAnnikkO, Minna;
Weil, Dominique;
Lathrop, Mark;
Ala-Kokko, Leena;
Drira, Mohamed;
Petit, Christine;
Ayadi, Hammadi

Publication type:

Article

A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 121, doi. 10.1038/sj.ejhg.5200929

By:

D'Adamo, Pio;
Donaudy, Francesca;
D'Eustacchio, Angela;
Di Iorio, Enzo;
Melchionda, Salvatore;
Gasparini, Paolo

Publication type:

Article

Genome-wide search in Finnish families with inflammatory bowel disease provides evidence for novel susceptibility loci.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 112, doi. 10.1038/sj.ejhg.5200936

By:

Paavola-Sakki, Paulina;
Ollikainen, Vesa;
Helio, Tiina;
Halme, Leena;
Turunen, Ulla;
Lahermo, Paivi;
Lappalainen, Maarit;
Farkkila, Martti;
Kontula, Kimmo

Publication type:

Article

Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 145

By:

Stiburkova, Blanka;
Majewski, Jacek;
Hodanova, Katerina;
Ondrova, Lenka;
Jerabkova, Marketa;
Zikanova, Marie;
Vylet'al, Petr;
Sebesta, Ivan;
Marinaki, Anthony;
Simmonds, Anne;
Matthijs, Gert;
Fryns, Jean-Pierre;
Torres, Rosa;
Puig, Juan Garcia;
Ott, Jurg;
Kmoch, Stanislav

Publication type:

Article

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 138, doi. 10.1038/sj.ejhg.5200938

By:

Grabowski, Monika;
Zimprich, Alexander;
Lorenz-Depiereux, Bettina;
Kalscheuer, Vera;
Asmus, Friedrich;
Gasser, Thomas;
Meitinger, Thomas;
Strom, Tim M

Publication type:

Article

A candidate region for Asperger syndrome defined by two 17p breakpoints.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 189, doi. 10.1038/sj.ejhg.5200939

By:

Tentler, Dmitry;
Johannesson, Tonnie;
Johansson, Maria;
Rastam, Maria;
Gillberg, Christopher;
Orsmark, Christina;
Carlsson, Birgit;
Wahlstrom, Jan;
Dahl, Niklas

Publication type:

Article

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 163, doi. 10.1038/sj.ejhg.5200940

By:

Vincent, Marie-Claire;
Pujo, Anne-Laure;
Olivier, David;
Calvas, Patrick

Publication type:

Article

Combined high resolution linkage and association mapping of quantitative trait loci.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 125, doi. 10.1038/sj.ejhg.5200941

By:

Fan, Ruzong;
Xiong, Momiao

Publication type:

Article

Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 155, doi. 10.1038/sj.ejhg.5200942

By:

Conte, Ivan;
Lestingi, Marta;
den Hollander, Anneke;
Alfano, Giovanna;
Ziviello, Carmela;
Pugliese, Mariarosaria;
Circolo, Diego;
Caccioppoli, Cristina;
Ciccodicola, Alfredo;
Banfi, Sandro

Publication type:

Article

On the role of CFTR, PSSR1 and PST1/SPINK1 in idiopathic chronic pancreatitis.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 107, doi. 10.1038/sj.ejhg.5200944

By:

Perri, Francesco;
Piepoli, Ada;
Andriulli, Angelo

Publication type:

Article

'Gain of function' PRSS1 mutations are rare in ICP.

Published in:

European Journal of Human Genetics, 2003, v. 11, n. 2, p. 108, doi. 10.1038/sj.ejhg.5200945

By:

Chen, Jian-Min;
Audrezet, Marie-Pierre;
Le Marechal, Cedric;
Ferec, Claude

Publication type:

Article